Property Summary

NCBI Gene PubMed Count 24
PubMed Score 16.70
PubTator Score 24.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Gene RIF (11)

PMID Text
24144451 This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations.
23946133 Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa.
21850168 A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.
19800048 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
19503738 Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions
19172513 This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans
19172513 Observational study of gene-disease association. (HuGE Navigator)
18334959 This is the second report of LCA5 mutations causing Leber congenital amaurosis.
18000884 Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%).
17546029 The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.
16082399 Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.

AA Sequence

MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSP      1 - 70
KGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQ     71 - 140
YRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEIS    141 - 210
EARHLPERDDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQR    211 - 280
LYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPET    281 - 350
IMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKK    351 - 420
QKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLP    421 - 490
LLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF    491 - 560
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASS    561 - 630
KGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR       631 - 697
//

Text Mined References (25)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25416956 2014 A proteome-scale map of the human interactome network.
24144451 2014 Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
23509613 2013 Genome-wide association study of antiphospholipid antibodies.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22940612 2012 FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
21850168 2011 Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
21606596 2011 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
21302353 2011 Genome-wide association study of hoarding traits.
19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
19503738 2009 Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
19172513 2009 LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
18826961 2009 Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
18334959 2008 Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
18000884 2007 Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
16082399 2006 Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12642313 2003 Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10631161 2000 A novel locus for Leber congenital amaurosis maps to chromosome 6q.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.